Basal cell nevus syndrome. A case report.

An 11-year-old boy with multiple dentigerous cysts in the maxilla and mandible is described. Other findings seen in the face, plantar skin, skeletal system and oral cavity indicated the lesions to be due to the basal cell nevus syndrome. This was further confirmed by the presence of similar abnormalities in his father and brother.     

基底细胞痣综合征伴杜氏肌营养不良症1例

基底细胞痣综合征也称Gorlin-Goltz综合征,是一种罕见的常染色体显性遗传病.目前认为基底细胞痣综合征是PTCH1基因突变所致,发病率为1/256000～1/57000.本文报道1例7岁基底细胞痣综合征伴杜氏肌营养不良症患者.     

基底细胞痣综合征1例报告及文献复习

基底细胞痣综合征属常染色体显性遗传性疾病,系由多发性颌骨角化囊肿、皮肤基底细胞痣(癌)、骨骼系统异常以及各种其他缺陷所组成的一种复杂罕见的综合征,本文报告1例典型病例,对其主要发病机制、临床特点、诊断和治疗等进行回顾分析。     

Basal cell nevus syndrome. Presentation of six cases and literature review

Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented.     

Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome

Cysts of the jaws are a relatively commonly encountered pathologic condition, and a full spectrum of these lesions may present in pediatric patients. Most cystic lesions are of odontogenic origin, as seen in adult patients, and a range of surgical approaches are available for their management. These approaches are based on the clinical and radiologic features and the behavioral and histologic characteristics of each cyst. Advances in imaging techniques and laboratory investigations, such as immunocytochemistry and genetic analysis, will continue to facilitate improved diagnoses, patient management, and clinical outcomes.     

Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations

The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, and digital anomalies. Type II OFDS was reported by Mohr in 1941. Mohr syndrome is an autosomal recessive inherited disease characterized by median cleft lip, poly lobed tongue, absence of medial incisors, and polydactyly of hands and feet. Some other different expressive types of OFDS cases have been reported, and identified with 11 different clinical entities up to the present.Until now, only three cases of OFDS II in Japanese patients have been detected except for our patient. At this time, we observed a Japanese patient of Mohr syndrome with median cleft lip and tongue, hypertrophied frenula, absence of left medial incisor, and bilateral bifidity of great toe. Lip and tongue plasty was performed at 7 months after birth and toe plasty was done at 11 months with good results.     

基底细胞痣综合征(附24例报告)

目的：总结基底细胞痣综合征（BCNS）主要临床特点及颌骨囊肿的治疗体会。方法：对1981－03－1999－09收治的24例BCNS进行临床分析。结果：24例均患有颌骨囊肿，平均初诊年龄17岁。其它主要症状发生率：多发痣37．5％，掌足陷凹29．2％，脊柱肋骨畸形70．8％，颅内钙化79．2％。颌骨囊肿引起的面部畸形是BCNS早期就诊的主要原因，具有多发性、发病年龄早及同一患者囊肿发病时间有先后等特点，手术治疗复发率22．0％。结论：颌骨囊肿是造成BCNS患者生理心理损害的主要症状之一，青春期前尤其是10岁左右患颌骨囊肿者应注意其是否患有BCNS。     

The basal cell nevus syndrome associated with cleft lip and cleft palate: report of case.

A case of basal cell nevus syndrome with multiple keratocysts, cleft lip and cleft palate, calcification of the falx cerebri, and late appearance of basal cell carcinoma is described.     

基底细胞痣综合征中国一家系致病相关基因连锁及突变分析

目的 揭示基底细胞痣综合征中国一个家系发病的分子遗传基础，为家系中的年轻患者实行早期监测和治疗。方法 首先选择家系中先证者和其患病母亲及家系中一名健康人，提取外周血DNA，聚合酶链反应（PCR）扩增PTCH基因编码氨基酸的23个外显子，对扩增产物进行DNA测序后；采用位于9q22．3-q31区的3个微卫星DNA标记对该家系行遗传连锁分析。结果 先证者患病母亲PTCH基因未发现突变；先证者（V4）14号外显子发生同义突变；连锁分析显示，在位点D9S283、D9S1690和D9S1677，Lod值＜-2（θ=0．00）。结论 排除了PTCH基因作为基底细胞痣综合征该家系致病基因的可能。     

Regional odontodysplasia in epidermal nevus syndrome

Epidermal nevus syndrome is defined as a combination of nevoid skin alterations, epileptic seizures, and psychomotoric retardation. Involvement of other organs, especially the eyes, may also occur, but is not obligatory. The present report is concerned with a case that combined regional odontodysplasia with nevoid skin alterations in the overlying skin area of the face. This observation suggests that odontodysplasia may be the result of aberrations in the development and migration of cells of the neural crest occurring early in embryonic life.